Erişkin Still Hastalığının Klinik Özellikleri ve Tanısı
Özet
Erişkin Başlangıçlı Still Hastalığı (AOSD), etiyolojisi tam olarak bilinmeyen, nadir rastlanan multisistemik ve inflamatuar bir hastalıktır. Prevalansı 1/100.000’den az olan hastalık, genellikle 15-25 ile 36-46 yaş aralığındaki genç erişkin popülasyonu bimodal şekilde etkilemektedir. Karakteristik klinik özellikleri arasında 39 °C’yi aşan ani günlük yüksek ateş, somon renginde geçici makülopapüler döküntü, boğaz ağrısı, miyalji ve özellikle el bileği ile dizleri etkileyen poliartralji yer alır. Ayrıca hepatosplenomegali, lenfadenopati ve serozit gibi multiviseral tutulumlar da seyir esnasında sıklıkla gözlenebilir. Laboratuvar paneli, nötrofilik lökositoz, artmış akut faz reaktanları (ESR, CRP) ve karaciğer enzimleri ile birlikte belirgin bir hiperferritinemi tablosunu yansıtır. Romatoid faktör ve antinükleer antikor testleri ise negatif sonuç vermektedir. Teşhise özel spesifik tek bir biyobelirteç bulunmadığından, tanı ancak enfeksiyon, malignite ve diğer romatolojik bozuklukların dışlanmasıyla, yaygın olarak Yamaguchi kriterleri kullanılarak konulabilmektedir. Klinik gidişat monosiklik, polisiklik veya kronik ilerleyici paternler sergileyebilir. Hastalık kontrol altına alınamadığında makrofaj aktivasyon sendromu, miyokardit, fulminan hepatit ve çoklu organ yetmezliği gibi hayati tehdit oluşturan ciddi komplikasyonlara yol açma riski taşımaktadır.
Adult-Onset Still's Disease (AOSD) is a rare multisystemic inflammatory disorder of unknown etiology, primarily affecting young populations with a bimodal peak age between 15-25 and 36-46 years. Characterized by its low prevalence of less than 1/100,000, the disease presents major clinical manifestations including high spiking daily fevers exceeding 39 °C, transient salmon-colored maculopapular rashes, sore throat, myalgia, and polyarthralgia frequently affecting wrists and knees. Multiviseral involvement such as hepatosplenomegali, lymphadenopathy, and serositis is also commonly reported. Laboratory findings typically mirror non-specific systemic inflammation, demonstrating neutrophilic leukocytosis, markedly elevated acute-phase reactants (ESR, CRP), increased liver enzymes, and profound hyperferritinemia, while rheumatoid factor and antinuclear antibodies remain negative. Because no single biological marker is pathognomonic, AOSD is a diagnosis of exclusion requiring the elimination of infectious, malignant, and other autoimmune conditions, heavily relying on the Yamaguchi classification criteria for accurate identification. The clinical course is highly variable and unpredictable, categorized into monocyclic, polycyclic, or chronic progressive patterns. Furthermore, uncontrolled systemic inflammation can potentially trigger life-threatening complications, including macrophage activation syndrome, myocarditis, fulminant hepatitis, and multiple organ failure.
Referanslar
Magadur-Joly G, Billaud E, Barrier JH, et al. Epidemiology of adult Still's disease: estimate of the incidence by a retrospective study in west France. Ann Rheum Dis. 1995;54(7):587-90. doi: 10.1136/ard.54.7.587
Gerfaud-Valentin M, Maucort-Boulch D, Hot A, et al. Adult-onset still disease: manifestations, treatment, outcome, and prognostic factors in 57 patients. Medicine (Baltimore). 2014;93(2):91-99. doi:10.1097/MD.0000000000000021
Gerfaud-Valentin M, Jamilloux Y, Iwaz J, et al. Adult-onset Still’s disease. Autoimmun Rev. 2014;13:708–22. doi.org/10.1016/j.autrev.2014.01.058
Néel A, Wahbi A, Tessoulin B, et al. Diagnostic and management of life-threatening Adult-Onset Still Disease: a French nationwide multicenter study and systematic literature review. Crit Care. 2018;22(1):88. doi:10.1186/s13054-018-2012-2
Bagnari V, Colina M, Ciancio G, et al. Adult-onset Still's disease. Rheumatol Int. 2010;30(7):855-862. doi:10.1007/s00296-009-1291-y
Evensen KJ, Nossent HC. Epidemiology and outcome of adult-onset Still's disease in Northern Norway. Scand J Rheumatol. 2006;35(1):48-51. doi:10.1080/03009740510026616
Sfriso P, Priori R, Valesini G, et al. Adult-onset Still's disease: an Italian multicentre retrospective observational study of manifestations and treatments in 245 patients. Clin Rheumatol. 2016;35(7):1683-1689. doi:10.1007/s10067-016-3308-8
Giacomelli R, Ruscitti P, Shoenfeld Y. A comprehensive review on adult onset Still's disease. J Autoimmun. 2018;93:24-36. doi:10.1016/j.jaut.2018.07.018
Wouters JM, van Rijswijk MH, van de Putte LB. Adult onset Still's disease in the elderly: a report of two cases. J Rheumatol. 1985;12(4):791-793.
Crispín JC, Martínez-Baños D, Alcocer-Varela J. Adult-onset Still disease as the cause of fever of unknown origin. Medicine (Baltimore). 2005;84(6):331-337. doi:10.1097/01.md.0000188009.47085.76
Zenone T. Fever of unknown origin in adults: evaluation of 144 cases in a non-university hospital. Scand J Infect Dis. 2006;38(8):632-638. doi:10.1080/00365540600606564
Efthimiou P, Kontzias A, Hur P, et al. Adult-onset Still's disease in focus: Clinical manifestations, diagnosis, treatment, and unmet needs in the era of targeted therapies. Semin Arthritis Rheum. 2021;51(4):858-874. doi:10.1016/j.semarthrit.2021.06.004
Feist E, Mitrovic S, Fautrel B. Mechanisms, biomarkers and targets for adult-onset Still's disease. Nat Rev Rheumatol. 2018;14(10):603-618. doi:10.1038/s41584-018-0081-x
Kádár J, Petrovicz E. Adult-onset Still's disease. Best Pract Res Clin Rheumatol. 2004;18(5):663-676. doi:10.1016/j.berh.2004.05.004
Fautrel B, Le Moël G, Saint-Marcoux B, et al. Diagnostic value of ferritin and glycosylated ferritin in adult onset Still's disease. J Rheumatol. 2001;28(2):322-329.
Vignes S, Le Moël G, Fautrel B, et al. Percentage of glycosylated serum ferritin remains low throughout the course of adult onset Still's disease. Ann Rheum Dis. 2000;59(5):347-50. doi: 10.1136/ard.59.5.347
Fardet L, Coppo P, Kettaneh A, et al. Low glycosylated ferritin, a good marker for the diagnosis of hemophagocytic syndrome. Arthritis Rheum. 2008;58(5):1521-1527. doi:10.1002/art.23415
Mitrovic S, Fautrel B. New Markers for Adult-Onset Still's Disease. Joint Bone Spine. 2018;85(3):285-293. doi:10.1016/j.jbspin.2017.05.011
Scirè CA, Cavagna L, Perotti C, et al. Diagnostic value of procalcitonin measurement in febrile patients with systemic autoimmune diseases. Clin Exp Rheumatol. 2006;24(2):123-128.
Zhao DB, Dai SM, Liu XP, et al. Interstitial inflammation in visceral organs is a pathologic feature of adult-onset Still's disease. Rheumatol Int. 2011;31(7):923-927. doi:10.1007/s00296-009-1228-5
Pouchot J, Sampalis JS, Beaudet F, et al. Adult Still's disease: manifestations, disease course, and outcome in 62 patients. Medicine (Baltimore). 1991;70(2):118-136.
Yamashita H, Kubota K, Takahashi Y, et al. Clinical value of ¹⁸F-fluoro-dexoxyglucose positron emission tomography/computed tomography in patients with adult-onset Still's disease: a seven-case series and review of the literature. Mod Rheumatol. 2014;24(4):645-650. doi:10.3109/14397595.2013.850998
Crouzet J, Boudousq V, Lechiche C, et al. Place of (18)F-FDG-PET with computed tomography in the diagnostic algorithm of patients with fever of unknown origin. Eur J Clin Microbiol Infect Dis. 2012;31(8):1727-1733. doi:10.1007/s10096-011-1440-6
Yamaguchi M, Ohta A, Tsunematsu T, et al. Preliminary criteria for classification of adult Still's disease. J Rheumatol. 1992;19(3):424-430.
Fautrel B, Zing E, Golmard JL, et al. Proposal for a new set of classification criteria for adult-onset still disease. Medicine (Baltimore). 2002;81(3):194-200. doi:10.1097/00005792-200205000-00003
Wouters JM, van de Putte LB. Adult-onset Still's disease; clinical and laboratory features, treatment and progress of 45 cases. Q J Med. 1986;61(235):1055-1065.
